Possible new complementation group of xeroderma pigmentosum

着色性干皮病可能的新互补群

基本信息

批准号：
17591167
负责人：
MORIWAKI Shinichi
金额：
$ 2.24万
依托单位：
Osaka Medical College
依托单位国家：
日本
项目类别：
Grant-in-Aid for Scientific Research (C)
财政年份：
2005
资助国家：
日本
起止时间：
2005 至 2006
项目状态：
已结题

项目摘要

Xeroderma pigmentosum (XP) is an autosomal recessive photosensitive disease with abnormal pigmentation and an extremely high incidence of skin cancers. Cells from patients with XP are hypersensitive to killing by ultraviolet (UV), which is associated with impaired ability to repair UV-induced DNA damages. There are genetically different seven nucleotide excision repair (NER) deficient groups (A～G) and a NER proficient form (XP variant). We have been receiving more than 348clinical samples for the diagnosis of XP for these five years and 108 patients were newly diagnosed as having XP in our laboratory. Among them, we found 8 unusual Japanese XP cases. Those patients (17～55 y.o.) are not related and have mild clinical features with a few skin cancers in areas exposed to sunlight and so far any evidence for neurological abnormalities was not detected. Fibroblasts derived from those patients were hypersensitive to UV irradiation compared to cells from normal subjects and less sensitive to UV than XP-A XP-C and XP-D cells, while the levels of post-UV unscheduled DNA synthesis (UDS) in those patients were less than 30% of normal, respectively. Complementation test by cell fusion technique and a plasmid host cell reactivation assay revealed that those patients did not belong to XP group A, B, C, D, F and G. DNA repair studies and gene analysis indicated that those patients were not in XP group E and XP variant. Cell fusion analysis using those cell strains implied that there were at least two more new XP complementation groups. cDNA and miRNA microarray analyses showed the decreased expression of ATM, CLSPN and FANCD. Continuing molecular and biochemical analyses using the cells from those patients should give a new insight in NER pathway.

色素色素（XP）是一种常染色体的凹陷疾病，具有异常的色素沉着和CED DNA损害。在我们的实验室中，我们发现了8个不寻常的日本XP病例。比XP-A XP-C和XP-D细胞的受试者和对UV的受试者，而后UV后未定义的DNA合成（UDS）的水平小于正常，通过细胞融合技术的正常，尊重测试的30％细胞重新激活测定表明，患者不属于XP A，B，C，D，D，F和G。DNA修复和基因表明这些患者不在XP E组和XP变体中。更多新的XP Comp压缩组。

项目成果

期刊论文数量（17）

专著数量（0）

科研奖励数量（0）

会议论文数量（0）

专利数量（0）

色素性乾皮症の新しい診断法

色素性干皮病的新诊断方法

DOI：
发表时间：
2006
期刊：
臨床皮膚 59
影响因子：
0
作者：
Okuyama R;Ogawa E;Nagoshi H;Yabuki M;Kurihara A;Terui T;Aiba S;Obinata M;Tagami H;Ikawa S.;森脇真一
通讯作者：
森脇真一

小児看護学;皮膚疾患

小儿皮肤病护理；

DOI：
发表时间：
2006
期刊：
影响因子：
0
作者：
Masanori Kawasaki;Yoko Ito;Haruko Yokoyama;Masazumi Arai;Genzou Takemura;Akira Hara;Yoshiro Ichiki;Hisato Takatsu;Shinya Minatogichi;Hisayochi Fujiwara;高橋幸博;森脇真一
通讯作者：
森脇真一

In the presence of ferritin, visible light induces lipid peroxidation of the porcine photoreceptor outer segment